A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies

Jonathan D.J. Labonne, Julie Vogt, Lisa Reali, Il Keun Kong, Lawrence C. Layman, Hyung Goo Kim

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


In Potocki-Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when deletions are at least 2.1Mb in size at 11p11.2. The PSS-associated genes EXT2 and ALX4, together with PHF21A, all map to this region flanked by markers D11S1393 and D11S1319. Being proximal to EXT2 and ALX4, a 1.1Mb region containing 12 annotated genes had been identified by deletion mapping to explain PSS phenotypes except multiple exostoses and parietal foramina. Here, we report a male patient with partial PSS phenotypes including global developmental delay, craniofacial anomalies, minor limb anomalies, and micropenis. Using microarray, qPCR, RT-qPCR, and Western blot analyses, we refined the candidate gene region, which harbors five genes, by excluding two genes, SLC35C1 and CRY2, which resulted in a corroborating role of PHF21A in developmental delay and craniofacial anomalies. This microdeletion contains the least number of genes at 11p11.2 reported to date. Additionally, we also discuss the phenotypes observed in our patient with respect to those of published cases of microdeletions across the Potocki-Shaffer interval.

Original languageEnglish (US)
Pages (from-to)3011-3018
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
StatePublished - Dec 1 2015


  • 11p11.2
  • ALX4
  • BHC80
  • BRAF35
  • CoREST
  • Craniofacial anomalies
  • Developmental delay
  • EXT2
  • GTF2I
  • H3K4me0
  • H3K4me1
  • H3K4me2
  • HDAC1
  • HDAC2
  • Haploinsufficiency
  • Histone demethylase
  • Histone eraser
  • Histone reader
  • KDM1A
  • LSD1
  • MAPK8IP1
  • Microdeletion
  • Micropenis
  • PHF21A
  • Positional cloning
  • Potocki-Shaffer syndrome
  • Repressor
  • Tapering finger
  • Unmethylated histone
  • ZMYM2
  • ZMYM3
  • ZNF217

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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